Human Gene RPS26 (uc001sjf.3) Description and Page Index
Description: Homo sapiens ribosomal protein S26 (RPS26), mRNA. RefSeq Summary (NM_001029): This gene encodes a ribosomal protein that is a component of the 40S subunit. The protein belongs to the S26E family of ribosomal proteins. Mutations in this gene are found in Diamond-Blackfan anemia 10. There are multiple processed pseudogenes of this gene dispersed through the genome. [provided by RefSeq, Aug 2017]. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications. ##Evidence-Data-START## Transcript exon combination :: SRR1163658.412434.1, SRR1163655.524780.1 [ECO:0000332] ##Evidence-Data-END## ##RefSeq-Attributes-START## MANE Ensembl match :: ENST00000646449.2/ ENSP00000496643.1 RefSeq Select criteria :: based on single protein-coding transcript ##RefSeq-Attributes-END## Transcript (Including UTRs) Position: hg19 chr12:56,435,686-56,438,007 Size: 2,322 Total Exon Count: 4 Strand: + Coding Region Position: hg19 chr12:56,435,951-56,437,938 Size: 1,988 Coding Exon Count: 4
ID:RS26_HUMAN DESCRIPTION: RecName: Full=40S ribosomal protein S26; INTERACTION: Q969E8:TSR2; NbExp=3; IntAct=EBI-353438, EBI-746981; DISEASE: Defects in RPS26 are the cause of Diamond-Blackfan anemia type 10 (DBA10) [MIM:613309]. It is a form of Diamond-Blackfan anemia, a congenital non-regenerative hypoplastic anemia that usually presents early in infancy. Diamond-Blackfan anemia is characterized by a moderate to severe macrocytic anemia, erythroblastopenia, and an increased risk of malignancy. 30 to 40% of Diamond-Blackfan anemia patients present with short stature and congenital anomalies, the most frequent being craniofacial (Pierre-Robin syndrome and cleft palate), thumb and urogenital anomalies. SIMILARITY: Belongs to the ribosomal protein S26e family.
Genetic Association Studies of Complex Diseases and Disorders
The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.
ModBase Predicted Comparative 3D Structure on P62854
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Orthologous Genes in Other Species
Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
R-HSA-72676 eIF3 and eIF1A bind to the 40S subunit R-HSA-72673 Release of 40S and 60S subunits from the 80S ribosome R-HSA-72672 The 60S subunit joins the translation initiation complex R-HSA-72619 eIF2:GTP is hydrolyzed, eIFs are released R-HSA-72691 Formation of the 43S pre-initiation complex R-HSA-156808 Formation of translation initiation complexes yielding circularized Ceruloplasmin mRNA in a 'closed-loop' conformation R-HSA-157849 Formation of translation initiation complexes containing mRNA that does not circularize R-HSA-72671 eIF5B:GTP is hydrolyzed and released R-HSA-156907 Aminoacyl-tRNA binds to the ribosome at the A-site R-HSA-2408529 Sec-tRNA(Sec):EEFSEC:GTP binds to 80S Ribosome R-HSA-141691 GTP bound eRF3:eRF1 complex binds the peptidyl tRNA:mRNA:80S Ribosome complex R-HSA-156915 Translocation of ribosome by 3 bases in the 3' direction R-HSA-141671 Polypeptide release from the eRF3-GDP:eRF1:mRNA:80S Ribosome complex R-HSA-156912 Peptide transfer from P-site tRNA to the A-site tRNA R-HSA-927832 UPF1 binds an mRNP with a termination codon preceding an Exon Junction Complex R-HSA-927789 Formation of UPF1:eRF3 complex on mRNA with a premature termination codon and no Exon Junction Complex R-HSA-1799332 Nascent polypeptide:mRNA:ribosome complex binds signal recognition particle (SRP) R-HSA-156923 Hydrolysis of eEF1A:GTP R-HSA-72621 Ribosomal scanning R-HSA-72697 Start codon recognition R-HSA-156823 Association of phospho-L13a with GAIT element of Ceruloplasmin mRNA R-HSA-5333615 80S:Met-tRNAi:mRNA:SECISBP2:Sec-tRNA(Sec):EEFSEC:GTP is hydrolysed to 80S:Met-tRNAi:mRNA:SECISBP2:Sec and EEFSEC:GDP by EEFSEC R-HSA-141673 GTP Hydrolysis by eRF3 bound to the eRF1:mRNA:polypeptide:80S Ribosome complex R-HSA-927889 SMG1 phosphorylates UPF1 (enhanced by Exon Junction Complex) R-HSA-1799329 Signal peptidase hydrolyzes signal peptide from ribosome-associated nascent protein R-HSA-1799330 The SRP receptor binds the SRP:nascent peptide:ribosome complex R-HSA-1799326 Signal-containing nascent peptide translocates to endoplasmic reticulum R-HSA-72689 Formation of a pool of free 40S subunits R-HSA-6791226 Major pathway of rRNA processing in the nucleolus and cytosol R-HSA-1799339 SRP-dependent cotranslational protein targeting to membrane R-HSA-9010553 Regulation of expression of SLITs and ROBOs R-HSA-72706 GTP hydrolysis and joining of the 60S ribosomal subunit R-HSA-72695 Formation of the ternary complex, and subsequently, the 43S complex R-HSA-72649 Translation initiation complex formation R-HSA-72737 Cap-dependent Translation Initiation R-HSA-8868773 rRNA processing in the nucleus and cytosol R-HSA-156902 Peptide chain elongation R-HSA-2408557 Selenocysteine synthesis R-HSA-72764 Eukaryotic Translation Termination R-HSA-975957 Nonsense Mediated Decay (NMD) enhanced by the Exon Junction Complex (EJC) R-HSA-975956 Nonsense Mediated Decay (NMD) independent of the Exon Junction Complex (EJC) R-HSA-72766 Translation R-HSA-376176 Signaling by ROBO receptors R-HSA-192823 Viral mRNA Translation R-HSA-72702 Ribosomal scanning and start codon recognition R-HSA-156827 L13a-mediated translation R-HSA-72662 Activation of the mRNA upon binding of the cap-binding complex and eIFs, and subsequent binding to 43S R-HSA-72613 Eukaryotic Translation Initiation R-HSA-72312 rRNA processing R-HSA-156842 Eukaryotic Translation Elongation R-HSA-2408522 Selenoamino acid metabolism R-HSA-927802 Nonsense-Mediated Decay (NMD) R-HSA-392499 Metabolism of proteins R-HSA-422475 Axon guidance R-HSA-168273 Influenza Viral RNA Transcription and Replication R-HSA-8953854 Metabolism of RNA R-HSA-71291 Metabolism of nitrogenous molecules R-HSA-1266738 Developmental Biology R-HSA-168255 Influenza Life Cycle R-HSA-1430728 Metabolism R-HSA-168254 Influenza Infection R-HSA-5663205 Infectious disease R-HSA-1643685 Disease